10020[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 3154522	NM_003821.6(RIPK2):c.146T>G (p.Leu49Arg)	RIPK2 (L49R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3154523	NM_003821.6(RIPK2):c.269T>G (p.Phe90Cys)	RIPK2 (F90C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 766034	NM_003821.6(RIPK2):c.300T>C (p.Asn100=)	RIPK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2499076	NM_003821.6(RIPK2):c.310A>G (p.Asn104Asp)	RIPK2 (N104D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3154524	NM_003821.6(RIPK2):c.470A>G (p.Glu157Gly)	RIPK2 (E20G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710537	NM_003821.6(RIPK2):c.483+789G>A	RIPK2	Single nucleotide variant (intron variant)	Leprosy, susceptibility to, 1	GUncertain risk allele
Select item 2226128	NM_003821.6(RIPK2):c.512G>A (p.Arg171His)	RIPK2 (R171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298199	NM_003821.6(RIPK2):c.514A>G (p.Met172Val)	RIPK2 (M172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154526	NM_003821.6(RIPK2):c.515T>C (p.Met172Thr)	RIPK2 (M172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707947	NM_003821.6(RIPK2):c.612A>T (p.Ser204=)	RIPK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2285031	NM_003821.6(RIPK2):c.787G>A (p.Ala263Thr)	RIPK2 (A263T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211204	NM_003821.6(RIPK2):c.790C>T (p.Arg264Cys)	RIPK2 (R127C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411138	NM_003821.6(RIPK2):c.791G>A (p.Arg264His)	RIPK2 (R127H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 791293	NM_003821.6(RIPK2):c.802C>G (p.Leu268Val)	RIPK2 (L268V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2277053	NM_003821.6(RIPK2):c.815G>A (p.Gly272Glu)	RIPK2 (G135E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314513	NM_003821.6(RIPK2):c.920T>C (p.Ile307Thr)	RIPK2 (I170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484140	NM_003821.6(RIPK2):c.935C>T (p.Thr312Ile)	RIPK2 (T312I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154519	NM_003821.6(RIPK2):c.1009G>A (p.Val337Ile)	RIPK2 (V337I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2867178	NM_003821.6(RIPK2):c.1029+25dup	RIPK2	Duplication (intron variant)	not provided	GBenign
Select item 403380	NM_003821.6(RIPK2):c.1029+23_1029+25del	RIPK2	Deletion (intron variant)	not specified	GBenign
Select item 2339771	NM_003821.6(RIPK2):c.1064G>C (p.Ser355Thr)	RIPK2 (S355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314515	NM_003821.6(RIPK2):c.1127A>C (p.Lys376Thr)	RIPK2 (K376T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214663	NM_003821.6(RIPK2):c.1147A>G (p.Met383Val)	RIPK2 (M246V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365414	NM_003821.6(RIPK2):c.1219T>C (p.Cys407Arg)	RIPK2 (C270R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154520	NM_003821.6(RIPK2):c.1270A>G (p.Thr424Ala)	RIPK2 (T287A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325480	NM_003821.6(RIPK2):c.1325G>A (p.Ser442Asn)	RIPK2 (S442N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598832	NM_003821.6(RIPK2):c.1376C>T (p.Ser459Leu)	RIPK2 (S322L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154521	NM_003821.6(RIPK2):c.1456A>G (p.Lys486Glu)	LOC129390020, RIPK2 (K349E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314514	NM_003821.6(RIPK2):c.1544T>C (p.Met515Thr)	LOC129390020, RIPK2 (M378T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710536	NC_000008.11:g.89811459A>G	RIPK2	Single nucleotide variant	Leprosy, susceptibility to, 1	GUncertain risk allele
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808058	GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1	ATP6V0D2, CALB1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527453	GRCh37/hg19 8q21.3(chr8:90742314-91017575)	DECR1, NBN +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979842	GRCh37/hg19 8q21.3(chr8:88194550-91779543)x3	NBN, OSGIN2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 816526	GRCh37/hg19 8q21.3(chr8:90758337-91556317)x3	OSGIN2, NBN +3 more	Copy number gain	See cases	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443390	GRCh37/hg19 8q21.3(chr8:90717375-91029121)x1	DECR1, NBN +2 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 69